CLCN5

GENE INFORMATION

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Gene name

CLCN5 (HGNC Symbol)

Synonyms

ClC-5, CLC5, DENTS, hCIC-K2, hClC-K2, NPHL1, NPHL2, XLRH, XRN

Description

chloride channel, voltage-sensitive 5 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

Chromosome

X (Chromosome progress)

Cytoband

p11.22

Chromosome location (bp)

49687225 - 49863892

Ensembl

ENSG00000171365 (version 73.37)

Entrez gene

1184

UniProt

P51795 (UniProt - Evidence at protein level)

neXtProt

NX_P51795

Antibodypedia

CLCN5 antibodies
 

PROTEIN VIEW

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CLCN5-001
 
CLCN5-002
 
CLCN5-003
 
CLCN5-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CLCN5-001 ENSP00000365256
ENST00000376088
P51795
Show all »
Show » Show » 816 90.8 No >9
CLCN5-002 ENSP00000365259
ENST00000376091
P51795
Show all »
Show » Show » 816 90.8 No >9
CLCN5-003 ENSP00000304257
ENST00000307367
P51795
Show all »
Show » Show » 746 83.1 No >9
CLCN5-004 ENSP00000365276
ENST00000376108
P51795
Show all »
Show » Show » 746 83.1 No >9